AAN 2022 | Challenges surrounding the implementation of genetic diagnosis in daily practice settings

Isabel Haviland, MD and Heather Olson, MD, Boston Children’s Hospital, Boston, MA, explore the various challenges regarding the implementation of genetic testing in daily practice, such as appropriate test selection, access to genetic counseling, interpretation of test results, and the detection of rare genetic changes in patients with epilepsy. Selecting the appropriate genetic tests is dependent on a variety of factors, including age of seizure onset, disease severity, and the presence of other associated features. Epilepsy onset under 2 years, the presence of developmental and epileptic encephalopathy, and neurodevelopmental disorders are associated with an increased genetic testing yield. Currently, a test to diagnose all types of genetic variants in epilepsy has not been established. Pre and post-test counseling are highly recommended with genetic testing, however, access to this is limited despite its significance. Additionally, genetic variants can be missed, therefore repeated analysis of exome and genome sequencing is encouraged as these genetic testing methods continue to develop. With these developments, rare genetic changes such as mosaic mutations and epigenetic modifications can be better identified due to increased understanding and improvements in genetic training. This interview took place at the American Academy of Neurology 2022 Congress in Seattle, WA.